Rosenstein BJ - Search Results

1

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.

Hamosh A, King TM, Rosenstein BJ, Corey M, Levison H, Durie P, Tsui LC, McIntosh I, Keston M, Brock DJ, et al. Hamosh A, et al. Among authors: rosenstein bj. Am J Hum Genet. 1992 Aug;51(2):245-50. Am J Hum Genet. 1992. PMID: 1379413 Free PMC article.

2

Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.

Macek M Jr, Mackova A, Hamosh A, Hilman BC, Selden RF, Lucotte G, Friedman KJ, Knowles MR, Rosenstein BJ, Cutting GR. Macek M Jr, et al. Among authors: rosenstein bj. Am J Hum Genet. 1997 May;60(5):1122-7. Am J Hum Genet. 1997. PMID: 9150159 Free PMC article.

3

Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.

Macek M Jr, Hamosh A, Kiesewetter S, McIntosh I, Rosenstein BJ, Cutting GR. Macek M Jr, et al. Among authors: rosenstein bj. Hum Mutat. 1992;1(6):501-2. doi: 10.1002/humu.1380010608. Hum Mutat. 1992. PMID: 1284542 No abstract available.

4

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells.

Hamosh A, Rosenstein BJ, Cutting GR. Hamosh A, et al. Among authors: rosenstein bj. Hum Mol Genet. 1992 Oct;1(7):542-4. doi: 10.1093/hmg/1.7.542. Hum Mol Genet. 1992. PMID: 1284888 No abstract available.

5

Comparison of the clinical manifestations of cystic fibrosis in black and white patients.

Hamosh A, FitzSimmons SC, Macek M Jr, Knowles MR, Rosenstein BJ, Cutting GR. Hamosh A, et al. Among authors: rosenstein bj. J Pediatr. 1998 Feb;132(2):255-9. doi: 10.1016/s0022-3476(98)70441-x. J Pediatr. 1998. PMID: 9506637 Free article.

6

Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.

Cutting GR, Curristin SM, Nash E, Rosenstein BJ, Lerer I, Abeliovich D, Hill A, Graham C. Cutting GR, et al. Among authors: rosenstein bj. Am J Hum Genet. 1992 Jun;50(6):1185-94. Am J Hum Genet. 1992. PMID: 1376017 Free PMC article.

7

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH Jr. Cutting GR, et al. Among authors: rosenstein bj. Nature. 1990 Jul 26;346(6282):366-9. doi: 10.1038/346366a0. Nature. 1990. PMID: 1695717

8

Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.

Hamosh A, Trapnell BC, Zeitlin PL, Montrose-Rafizadeh C, Rosenstein BJ, Crystal RG, Cutting GR. Hamosh A, et al. Among authors: rosenstein bj. J Clin Invest. 1991 Dec;88(6):1880-5. doi: 10.1172/JCI115510. J Clin Invest. 1991. PMID: 1721624 Free PMC article.

9

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.

Cutting GR, Kasch LM, Rosenstein BJ, Tsui LC, Kazazian HH Jr, Antonarakis SE. Cutting GR, et al. Among authors: rosenstein bj. N Engl J Med. 1990 Dec 13;323(24):1685-9. doi: 10.1056/NEJM199012133232407. N Engl J Med. 1990. PMID: 2233965 Free article. No abstract available.

10

False-positive results of genetic testing in cystic fibrosis.

Warren WS, Hamosh A, Egan M, Rosenstein BJ. Warren WS, et al. Among authors: rosenstein bj. J Pediatr. 1997 Apr;130(4):658-60. doi: 10.1016/s0022-3476(97)70255-5. J Pediatr. 1997. PMID: 9108869

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